Polymorphism in the first intron of interferon-gamma gene [+874T/A] in patients with BCG adenitis

Cytokines and specially interferon-gamma [IFN- gamma] are largely responsible for the regulation of the protective immune response against mycobacterial infections. Several studies have clarified the importance of common variants of IFN-gamma gene regarding the susceptibility to tuberculosis. Bacille Calmette-Guerin [BCG] vaccine that is used to prevent severe forms of tuberculosis could produce local and systemic side effects. In this study we hypothesized that the IFN-gamma [+874T/A] polymorphism was associated with development of BCG adenitis. Thirty patients with BCG adenitis [18 males and 12 females] and 30 age and sex-matched healthy children, vaccinated with BCG during the first two days of life were chosen. All the patients and controls were of Iranian Fars origin and the study was conducted from 2005 to 2007. DNA samples were obtained from 30 patients with BCG adenitis and 30 age and sex matched healthy vaccines. Polymorphism at +874 was identified using allele specific polymerase chain reaction. Allele and genotype frequencies in cases and controls were compared using the chi [2] test and odds ratios [OR] and their 95% confidence intervals [CI] were calculated. The minor allele [T] frequency was significantly lower in patients with BCG adenitis compared to controls [35%vs 55%, P=0.02, OR =0.441, 95% CI= 0.211-0.919]. The Armitage trend test revealed a gradually increasing protection from the AA genotype through AT to TT [common odds ratio= 0.49; P=0.037]. Our data suggest that in an Iranian population, the IFN-gamma [+874T/A] polymorphism is associated with development of BCG adenitis in the vaccines

[Correlation of null Btk expression and gene noncoding mutations in XLA patients]

X-linked agammaglobulinemia [XLA] is a primary immunodeficiency disorder characterized by recurrent bacterial infections, profound lack of serum antibodies and reduced circulating B lymphocytes. Mutations in Bruton's tyrosine kinase gene [BTK] result in XLA. It is shown that absence of Btk protein expression may be accompanied by no mutations in coding regions in some cases, instead alterations in conserved regulatory domains of promoter and the first intron of BTK gene maybe occurred The aim of this study was evaluation of Btk expression and mutation analysis in coding and regulatory regions of the gene. In this study, eleven XLA patients were enrolled. Btk expression was analyzed by western immunoblotting method. Mutation analysis was carried out in eight patients. In three cases, PCR of the regulatory regions was performed with designed primers, followed by sequencing. According to western blot, normal Btk expression in three patients and null expression in eight others was observed. Mutation analysis showed two novel BTK mutations in two patients [1038-1040 delAGG and IVS8-2delA]. No coding or regulatory region mutations were found in three cases with null Btk expression. Based on these results, three cases with null expression and had no coding or regulatory region mutations are interesting. It is possible that some rare regulatory defects may have been occurred, other than conventional sites. This must be taken into account for future investgations

Mandibuloacral dysplasia in an Iranian girl

Mandibuloacral dysplasia [MAD] is a rare autosomal recessive syndrome. Less than 25 families have been reported, most of which are Italian. Here, we describe a new patient of Iranian origin, born to consanguineous parents